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A rare cause of drug-resistant epilepsy and nonconvulsive status epilepticus: Ring chromosome 20
Author(s) -
Olcay Ünver,
Serap Uysal
Publication year - 2015
Publication title -
zeynep kamil tıp bülteni
Language(s) - English
Resource type - Journals
eISSN - 2148-4864
pISSN - 1300-7971
DOI - 10.16948/zktb.42866
Subject(s) - status epilepticus , epilepsy , medicine , drug , ring chromosome , pediatrics , chromosome , pharmacology , psychiatry , genetics , biology , karyotype , gene
Ring chromosome 20 presents as a drug-resistant epilepsy syndrome with complex partial seizures and nonconvulsive status epilepticus. Other characteristics are mild to moderate learning disability, and various dysmorphic features. Its diagnosis necessitates a high index of suspicion since the incidence is rare and there is no a specific phenotypic expression. Case: Here we present a child admitted to our pediatric neurology clinic with complex partial seizures and nonconvulsive status epilepticus. Cytogenic studies revealed ring chromosome 20. Conclusion: Cytogenic studies should be part of the evaluation in epilepsy patients who presented with drug resistant epilepsy of unknown etiology.

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